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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter, Susan; Gieldon, Laura; Pang, Ying; Peitzsch, Mirko; Huynh, Thanh; Leton, Rocio; Viana, Bruna; Ercolino, Tonino; Mangelis, Anastasios; Rapizzi, Elena; Menschikowski, Mario; Aust, Daniela; Kroiss, Matthias; Beuschlein, Felix; Gudziol, Volker; Timmers, Henri Jlm; Lenders, Jacques; Mannelli, Massimo; Cascon, Alberto; Pacak, Karel; Robledo, Mercedes; Eisenhofer, Graeme; Klink, Barbara.
Afiliación
  • Richter S; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Susan.Richter2@uniklinikum-dresden.de.
  • Gieldon L; Institute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Pang Y; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Peitzsch M; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Huynh T; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Leton R; Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Viana B; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Ercolino T; Azienda Ospedaliero-Universitaria Careggi, Endocrinology Unit, Florence, Italy.
  • Mangelis A; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Rapizzi E; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
  • Menschikowski M; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Aust D; Institute of Pathology, Tumor and Normal Tissue Bank of the UCC/NCT Dresden, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Kroiss M; Department of Internal Medicine, Division of Endocrinology, University Hospital, University of Würzburg, Würzburg, Germany.
  • Beuschlein F; Medizinische Klinik and Poliklinik IV, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Gudziol V; Department for Endocrinology, Diabetology and Clinical Nutrition, UniversitätsSpital Zürich, Zurich, Switzerland.
  • Timmers HJ; Departments of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Lenders J; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Mannelli M; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Cascon A; Department of Medicine III, University Hospital Dresden, Dresden, Germany.
  • Pacak K; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
  • Robledo M; Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Eisenhofer G; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Klink B; Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Genet Med ; 21(3): 705-717, 2019 03.
Article en En | MEDLINE | ID: mdl-30050099
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraganglioma / Feocromocitoma / Genómica Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraganglioma / Feocromocitoma / Genómica Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Alemania